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Table 2 Integrating precision cancer medicine into healthcare—key challenges and opportunities

From: Integrating precision cancer medicine into healthcare—policy, practice, and research challenges

Area Challenge Opportunity
Medical Practice
 Detection Many cancers diagnosed too late Liquid biopsies
 Turnaround time Time from sample collection to clinically actionable result often too long Optimization of sample collection and data analysis pipelines
 Treatment Limited efficiency of targeted treatments Research on resistance mechanisms and tumor heterogeneity, and use of combined targeted and immune therapy
New standards needed
 Publication and implementation of clinical guidelines Multiple partly overlapping guidelines published, poor international and inter-sectorial operability Collaborations between agencies such as the FDA, the EMA, Health Canada, and the NHS. Implementation projects (IGNITE and others)
 Sample collection Current gold standard (FFPE) suboptimal for genomic data analysis. Standardization and implementation of new cancer sample collection strategies (for example, fresh frozen) to maximize quality, quantity, and purity of tumor cells.
 Sample preparation and analysis Suboptimal DNA extraction, library preparation, and sequencing protocols for molecular testing of cancer samples Implementation of new standards to counteract unavoidable cancer sample limitations (low quality, quantity and purity, high heterogeneity)
 Cancer genomic data analysis Current bioinformatics pipelines and software suboptimal for the identification of actionable cancer mutations Development and clinical validation of bioinformatics tools and pipelines for a thorough molecular analysis of tumor samples (including main and subclonal mutations, and cellular context)
 Cancer genomic data sharing Genetic diversity of the general population and cancer patients poorly represented in current publically available databases. Development of improved and curated cancer-specific and population databases
Widely variable data sharing policies among clinical institutions and research projects Alignment of international policies on cancer patients’ data sharing
Clinical trials and compound registration fragmented and patchy Improve databases of approved compounds and international clinical trial registries
 Test selection Widely variable genetic testing practices for similar cancer patients across clinical institutions Production of clinical guidelines on genetic test selection (single gene/gene panel/whole exome/whole-genome sequencing)
 Clinical trials and cost of drugs Classical clinical trial designs (large and diverse patient populations) inappropriate to test targeted therapies New clinical trial designs: drug repositioning tests, ‘n-of-one’ trials, rotation therapies
Cost-effectiveness of targeted therapies widely contested Thorough examination of cost-effectiveness of cancer genomic medicines, taking into account new clinical trial designs
 Intervention endpoints Traditional endpoints and measures (QALYs) ill-adapted to personalized medicine interventions Renewed, more holistic intervention endpoints, including patient experience, societal preferences, and values
 Policy, ethical and legal norms Border between research and healthcare increasingly porous Development of adapted, international and interoperable ethical and legal norms (GA4GH, P3G)
Higher uncertainty associated with the clinical significance of genomic information
Tension between international research endeavors and national healthcare systems
Pre-implementation research needed
 Identify priorities Need for a systematic identification of unresolved scientific questions International conferences and expert reviews in PCM
 Non-genetic aspects of cancer A number of elements still poorly understood • Environmental factors • Behavioral factors • Social determinants of cancer incidence and survival Support for targeted research in those domains, while continuing efforts to reduce known factors leading to increased cancer incidence and prevalence (smoking, alcohol consumption, and social deprivation)
  1. EMA European Medicines Agency, FDA Food and Drug Administration, FFPE formalin-fixed paraffin-embedded, GA4GH The Global Alliance for Genomics and Health, IGNITE Implementing Genomics in Practice, NHS National Health Service, PCM precision cancer medicine, P3G Public Population Project in Genomics and Society, QALY quality-adjusted life years